Results 71 to 80 of about 165,002 (258)

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

Don't Worry About Her; Intersectionality, and the Role of Systems and Structures in the Embodied Experiences of Young Women's Use of Violence

Australian Journal of Social Issues, EarlyView.
ABSTRACT Systems and structures designed to protect and support young people, specifically (in this paper) young women, are ironically the same systems that maintain gender disparity. Consequently, this has influenced the embodied identities of young women who experience and use violence. Such systemic and structural intersectionality has impacted upon
Louise Rak, Tamara Blakemore, Elsie Randall, Meaghan Katrak Harris   +3 more
wiley   +1 more source

Understanding Youth Assaults of Police Officers in Australia: A Power Threat Meaning Framework Analysis

Australian Journal of Social Issues, EarlyView.
ABSTRACT This study explores youth violence towards police officers in Australia through the Power Threat Meaning Framework (PTMF) to better understand the underlying factors contributing to such violence; focusing on power dynamics, childhood adversity, and trauma.
Dimitra Lattas, Kelly Hine, Catherine Creamer, Kelley Burton, Katelyn Davenport‐Klunder   +4 more
wiley   +1 more source

Tindak Komunikasi Verbal dan Nonverbal Bentuk Lepas Hormat dalam Bahasa Bali

Jurnal Kajian Bali (Journal of Bali Studies), 2016
: Tindak  Komunikasi  Verbal  dan  Nonverbal Bentuk  Lepas Hormat dalam Bahasa Bali. This study aims at describing (1) quatitative appropriateness between verbal and nonverbal communicatin acts of Balinese speakers’ loosely respective forms and 2 ...
I Nengah Suandi, Made Sri Indriani
doaj  

‘Hurry Up and Get Me out of Here’: The Experience of People Under 65 Years (Still) Stuck in Aged Care

Australian Journal of Social Issues, EarlyView.
ABSTRACT Following the Royal Commission into Aged Care Quality and Safety, the Australian Government set a target for no‐one under 65 years of age to be living in residential aged care (RAC) by 2025. The numbers of young people in residential aged care (YPIRAC) have significantly declined since the start of the targets.
Elroy Dearn, Kate D'Cruz, Mark Brown, Jacinta Douglas, Dianne Winkler   +4 more
wiley   +1 more source

Adults With Intellectual Disability Moving out of the Family Home Using the National Disability Insurance Scheme: Family Members' Planning Experiences

Australian Journal of Social Issues, EarlyView.
ABSTRACT For adults with intellectual disability and their families, future planning and moving out of the family home in Australia will increasingly occur within the context of the National Disability Insurance Scheme (NDIS). As a market‐based, individualised funding system its impact on this transition remains largely unknown. This paper reports on a
I. Belperio, R. Walker, C. Bigby, I. Wiesel, F. Rillotta, C. Hutchinson   +5 more
wiley   +1 more source

The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN‐Related Disorder in a Mouse Model

Annals of Neurology, EarlyView.
Objective Pathogenic variants in Kaptin (KPTN) cause KPTN‐related disorder (KRD). KPTN modulates mTOR signaling activation within the KICSTOR complex in response to cellular amino acid levels. We define the clinical spectrum and investigate the developmental pathogenesis of KRD.
Lettie E. Rawlins, Philip H. Iffland II, John Page, Rebecca Z. Flessner, Soad M. Elziny, Irina Sbornova, Janice K. Babus, Sophie R. Bruckmeier, Ria Parikh, Merel Verhoeven, James Fasham, Joseph S. Leslie, Richard Caswell, Nishanka Ubeyratna, Olivia Wenger, Ethan M. Scott, John Schreiber, Steffen Syrbe, Annick Klabunde‐Cherwon, Martina Owens, Andrew H. Crosby, Emma L. Baple, Peter B. Crino, the KPTN Consortium, Andrea Seeley, Heather Rocha, Sabine Rudnick, Ulrich Schaatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Ian Ellis, Raza Maroofian, Almundher Al‐Maawali, David Coman, Anthony Morosini, Sajjad Biglari, Pooneh Nikuei, Saadet Mercimek‐Andrews, Prab Prabhakar, Raymond Louie, Kameryn Butler, Olivia Wenger, Ethan M. Scott, Andrea Seeley, Heather Rocha, Amber Begtrup, Sabine Rudnik, Ulrich Schatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Marijn Stokman, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Kristina Zhelcheska, Henry Houlden, Ian Ellis, Reza Maroofian, Gholamreza Shariati, Hamid Galehdari, Almundher Al‐Maawali, Adila Al‐Kindi, Andrew Y. Shuen, Victoria Siu, Annick Klabunde‐Cherwon, Steffen Syrbe   +104 more
wiley   +1 more source

Linguaggi verbali e non verbali

Educazione Linguistica Language Education, 2016
Verbal and nonverbal communication have proved to be essential competences to possess in order to succeed in intercultural communication. After providing a general overview on the matter, this article will focus on some specific aspects of verbal and ...
Dalla Vecchia, Michela
doaj   +1 more source

Descriptive, comparative, and functional anatomy of the facial musculature in cattle (Bos taurus)

The Anatomical Record, EarlyView.
Abstract Facial expressions can provide insight into animal emotions and pain, but no standardized system for assessing the entire facial display in cattle (Bos taurus Linnaeus) exists. The Facial Action Coding System (FACS), originally developed for humans, identifies distinct facial movements based on mimetic muscles.
Maja Söderlind, Bridget Cain, Katrina Ask, Jean‐Francois Valarcher, Elin Hernlund, Pia Haubro Andersen, Marie Rhodin   +6 more
wiley   +1 more source